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Disease
Osteopetrosis with renal tubular acidosis
Also known as Carbonic anhydrase 2 deficiency, Guibaud-Vainsel syndrome, Marble brain disease, Mixed RTA+2 more
Carbonic anhydrase 2 deficiency, Guibaud-Vainsel syndrome, Marble brain disease, Mixed RTA, Mixed renal tubular acidosis, Renal tubular acidosis type 3.
5
Associated genes
1
Related proteins
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
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Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
Synonyms
Carbonic anhydrase 2 deficiency, Guibaud-Vainsel syndrome, Marble brain disease, Mixed RTA, Mixed renal tubular acidosis, Renal tubular acidosis type 3
References & data sources
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Related entities are derived from literature co-mention (studied together) — associative, not causal.